Canonical Allele Identifier: CA372769707

Gene: DOCK8

Linked Data

• MyVariant Identifiers: chr9:g.452048T>A (hg19) ; chr9:g.452048T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452048T>A , CM000671.2:g.452048T>A	GRCh38
NC_000009.11:g.452048T>A , CM000671.1:g.452048T>A	GRCh37
NC_000009.10:g.442048T>A	NCBI36
NG_017007.1:g.242184T>A , LRG_196:g.242184T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5699T>A	ENSP00000371766.2:p.Ile1900Asn
ENST00000683406.1:n.2474T>A
ENST00000684637.1:n.1680T>A
ENST00000685949.1:n.4787T>A
ENST00000432829.7:c.5999T>A MANE Select	ENSP00000394888.3:p.Ile2000Asn
ENST00000382329.1:c.4400T>A	ENSP00000371766.1:p.Ile1467Asn
ENST00000432829.6:c.5999T>A	ENSP00000394888.3:p.Ile2000Asn
ENST00000453981.5:c.5795T>A	ENSP00000408464.2:p.Ile1932Asn
ENST00000469391.5:c.5699T>A	ENSP00000419438.1:p.Ile1900Asn
ENST00000495184.5:n.7954T>A
NM_001190458.1:c.5699T>A	NP_001177387.1:p.Ile1900Asn
NM_001193536.1:c.5795T>A	NP_001180465.1:p.Ile1932Asn
NM_203447.3:c.5999T>A , LRG_196t1:c.5999T>A	NP_982272.2:p.Ile2000Asn
XM_011518045.1:c.5699T>A	XP_011516347.1:p.Ile1900Asn
XM_011518046.1:c.5861T>A	XP_011516348.1:p.Ile1954Asn
XM_011518047.1:c.5795T>A	XP_011516349.1:p.Ile1932Asn
XM_011518048.1:c.5795T>A	XP_011516350.1:p.Ile1932Asn
XM_011518049.1:c.4235T>A	XP_011516351.1:p.Ile1412Asn
XM_011518045.3:c.5699T>A	XP_011516347.1:p.Ile1900Asn
XM_011518046.2:c.5861T>A	XP_011516348.1:p.Ile1954Asn
XM_011518047.3:c.5795T>A	XP_011516349.1:p.Ile1932Asn
XM_011518048.2:c.5795T>A	XP_011516350.1:p.Ile1932Asn
XM_011518049.2:c.4235T>A	XP_011516351.1:p.Ile1412Asn
XM_017015173.1:c.5795T>A	XP_016870662.1:p.Ile1932Asn
XM_017015174.1:c.5861T>A	XP_016870663.1:p.Ile1954Asn
NM_001190458.2:c.5699T>A	NP_001177387.1:p.Ile1900Asn
NM_001193536.2:c.5795T>A	NP_001180465.1:p.Ile1932Asn
NM_203447.4:c.5999T>A MANE Select	NP_982272.2:p.Ile2000Asn